El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

Almannai, M., Marafi, D., Abdel‐Salam, G. M. H., Zaki, M. S., Duan, R., Calame, D., Herman, I., Levesque, F., Elbendary, H. M., Hegazy, I., Chung, W. K., Kavus, H., Saeidi, K., Maroofian, R., AlHashim, A., Al‐Otaibi, A., Al Madhi, A., Abou Al‐Seood, H. M., Alasmari, A., … El‐Hattab, A. W. (2022). El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clinical Genetics, 101(5–6), 530–540. Portico. https://doi.org/10.1111/cge.14132
Authors:
Mohammed Almannai
Dana Marafi
Ghada M. H. Abdel-Salam
Maha S. Zaki
Ruizhi Duan
Daniel Calame
Isabella Herman
Felix Levesque
Hasnaa M. Elbendary
Ibrahim Hegazy
Wendy K. Chung
Haluk Kavus
Kolsoum Saeidi
Reza Maroofian
Aqeela AlHashim
Ali Al-Otaibi
Asma Al Madhi
Hager M. Abou Al-Seood
Ali Alasmari
Henry Houlden
Joseph G. Gleeson
Jill V. Hunter
Jennifer E. Posey
James R. Lupski
Ayman W. El-Hattab
Affiliated Authors:
Wendy K. Chung
Haluk Kavus
Subjects:
Author Keywords:
wdr45b
autophagy
autosomal recessive (ar) trait
brain atrophy
neurodevelopmental disorders (ndd)
Publication Type:
Article
Unique ID:
10.1111/cge.14132
PMID:
Publication Date:
Data Source:
Scopus

Record Created: